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Targeted Variant Analysis
Clinical Genetic Test
Help
offered by
Integrated Genetics Westborough
GTR Test Accession: Help GTR000604243.3
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2024-12-09
View version history
Last annual review date for the lab: 2025-01-10 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (287): Help
Methylcrotonyl-CoA carboxylase deficiency; 3-M syndrome; 3-Methylglutaconic aciduria type 2 more...
Genes (578): Help
AAAS (12q13.13); ABCA12 (2q35); ABCA3 (16p13.3); ABCB11 (2q31.1); ABCB4 (7q21.12) more...
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Integrated Genetics Westborough
View lab's website
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 287
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 578
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Estimated analytical sensitivity is >99% for single nucleotide variants and insertions/deletions <45 base pairs. Single exon deletions or duplications can be detected in the DMD gene with estimated overall analytical sensitivity of 96.3%. For all other genes, the assay is designed to detect CNVs involving two or more consecutive coding … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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